R111* (p.Arg111Ter) variant of SETX (Helicase senataxin)
R111* (p.Arg111Ter) in SETX (Helicase senataxin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R111* (p.Arg111Ter) variant details
- p.Arg111Ter
- rs1451908310
- ClinGen CA375351227
- ClinVar RCV002949307
- ClinVar RCV005254650
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.759
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)